Musculoskeletal Anomalies

Question 0

Thenatophoric Dysplasia

Answer 0

MC lethal

Extreme micromelia: short bowed limbs
Long bone narrowing
Narrow thorax 
Protruding abdomen
Short ribs 
Hypomineralization

Champagne cork appearance 
Cloverleaf skull (Type 2)

Question 1

Narrowing thorax suggests

Answer 1

A lethal dysplasia

Question 2

Achondroplasia

Answer 2

MC non lethal

AMA
Dwarf

Rhizomelia (short prox limb)
Limb bowing
Short fingers 
Macrocephaly 
Frontal bossing
Hydrocephaly
Saddle nose 
Head/FL discrepancy
Biometry may be normal before 22 wks

*homozygous form is lethal

Question 3

Achondrogenesis / Anosteogenesis

Answer 3

2nd MC lethal

Type 1 (Parenti-Faccaro): micromelia, narrow short thorax, short ribs, polydactyly,

Type 2 (Langer-Saldino): MC, more severe, extreme micromelia, short thorax, protruding abd, dec ossification of spine, fractures, Hypomineralization, hydrops, poly, anasarca

Question 4

Short Rib-Polydactyly Syndrome

Answer 4

Fatal

Polydactyly
❤️ anomalies
GU anomalies
Cleft lip

Micromelia, narrow thorax, short ribs

Question 5

Jeune Syndrome / Asphyxiating Thoracic Dysplasia

Answer 5

Range of severity. Most severe is lethal

Funnel shape thorax
Mesomelia, Short extremities. Rhizomelia (short prox limb). Short ribs. Renal dysplasia. Polydactyly.

Question 6

Chondroectodermal Dysplasia / Ellis-Van Crevald Syndrome

Answer 6

Inc in Amish
Small thorax, short limbs, polydactyly
ASD

Question 7

Osteogenesis Imperfecta

Answer 7

Inherited collagen disorder
4 types
Hypomineralization

Type 1: MC, mild, fractures after birth, 35% deaf

Type 2: most severe, lethal. Short long bones, short ribs, multiple fractures, poor ossification. Hypomineralized skull, see hemispheres clearly. No shadow. Compressible head with transducer pressure

Type 3: severe. Fractures, long bone shortening, poor prognosis.

Type 4: mildest, occasional fractures. Short.

Question 8

Camptomelic Dysplasia

Answer 8

Lethal

*bowed short long bones
Small fibula
Hydronephrosis 
Hypertelorism
Narrow thorax
Hydrocephaly 
Cleft palate
Micrognathia 
Polyhydramnios

Question 9

Congenital Hypophosphatasia

Answer 9

Diffuse severe Hypomineralization, death after birth
Alkaline phosphatase deficiency
Polyhydramnios, compressible calvarium, short bowed limbs, fractures, short beaded ribs

Question 10

Polydactyly

Answer 10

Trisomies 13, 18, 21, skeletal Dysplasia

Question 11

Radial Ray Defect / Radial Aplasia

Answer 11

Clubbed hand

Tri 13, 18, vacterl, holt oram, tar syndrome, oligohydramnios

Question 12

Talipes/Clubfoot

Answer 12

Oligohydramnios, caudal regression, lead & rat poison

Question 13

Arthrogryposis Multiplex

Answer 13

Abnl contracture of limbs

Question 14

Lobster Claw / Ectrodactyly

Answer 14

Cleft hand

Question 15

Holy Oram Syndrome

Answer 15

Absent thumbs

CHD/ASD, phocomelia

Question 16

TAR syndrome / Thrombocytopenia Absent Radius Syndrome

Answer 16

Blood disorder dec platelets
Absent radius
Turned back clubbed hand appearance.

Question 17

VACTERL

Answer 17

Need 3 to make assoc

Vertebral anomalies
Anal atresia
Cardiac anomalies
Tracheo
Esophageal Fistula
Renal Anomalies
Limb Dysplasia

Question 18

Sirenomelia / Mermaid Syndrome

Answer 18

Caudal regression syndrome
Fused lower limbs

Oligo, renal agenesis, MCDK, SUA

Question 19

Roberts Syndrome / Pseudothalidamide Syndrome

Answer 19

Caused by thalidomide drug used 1960 for nausea in pregnancy

Phocomelia
Cleft lip/palate
Microcephaly
IUGR

Question 20

Diastrophic Dysplasia

Answer 20

Talipes
*Hitchhikers thumb 
Micromelia 
Scoliosis
Micrognathia 
Cleft palate

Question 21

Primordial Dwarfism

Answer 21

Proportionate dwarf. Squeaky voice

Question 22

Pseudo trisomy 18 syndrome / Pena Shokeir Syndrome

Answer 22

Fixed extremities with clenched hands. Severe edema, thick skin

Question 23

Acheiria

Answer 23

Absent hand(s)

Question 24

Acromelia

Answer 24

Short distal limbs (hand/feet)

Question 25

Adactyly

Answer 25

Absent digits

Question 26

Amelia

Answer 26

Absent limb(s)

Question 27

Apodia

Answer 27

Absent foot/feet

Question 28

Camptomelia

Answer 28

Bowed long bones

Question 29

Clinodactyly

Answer 29

Overlapping digits

Question 30

Ectrodactyly

Answer 30

Cleft hand/feet

Question 31

Hemimelia

Answer 31

Absent extremity below knee/elbow

Question 32

Mesomelia

Answer 32

Short middle limb (tib/fib/rad/ulna)

Question 33

Phocomelia

Answer 33

Hands/feet attached to trunk

Assoc with thalidomide drug use, Pseudothalidamide syndrome/Roberts syndrome

Question 34

Polydactyly

Answer 34

Extra digits

Question 35

Pterygium

Answer 35

Webbing of skin at joints & lack of muscle movement

Question 36

Rhizomelia

Answer 36

Short prox limbs (hum/femur)

Question 37

Micromelia

Answer 37

Short limbs

Question 38

Syndactyly

Answer 38

Abnl connection of digits

3rd & 4th fused digits assoc with triploidy

Question 39

Talipes / Club foot

Answer 39

MC talipes equinoveras